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NM_033380.3(COL4A5):c.232-2A>G AND X-linked Alport syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001281178.2

Allele description [Variation Report for NM_033380.3(COL4A5):c.232-2A>G]

NM_033380.3(COL4A5):c.232-2A>G

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_033380.3(COL4A5):c.232-2A>G
HGVS:
  • NC_000023.11:g.108563880A>G
  • NG_011977.2:g.128957A>G
  • NM_000495.5:c.232-2A>G
  • NM_033380.3:c.232-2A>GMANE SELECT
  • LRG_232t1:c.232-2A>G
  • LRG_232t2:c.232-2A>G
  • LRG_232:g.128957A>G
  • NC_000023.10:g.107807110A>G
Links:
dbSNP: rs2065933012
NCBI 1000 Genomes Browser:
rs2065933012
Molecular consequence:
  • NM_000495.5:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_033380.3:c.232-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
X-linked Alport syndrome (ATS1)
Synonyms:
NEPHROPATHY AND DEAFNESS, X-LINKED; Alport syndrome 1, X-linked recessive; Alport Syndrome and Thin Basement Membrane Nephropathy
Identifiers:
MONDO: MONDO:0010520; MedGen: C4746986; Orphanet: 63; Orphanet: 88917; OMIM: 301050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001425046Molecular Biology Laboratory, Fundació Puigvert - KidneyPanel_2020
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 1, 2020) 		maternalresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.

Domingo-Gallego A, Pybus M, Bullich G, Furlano M, Ejarque-Vila L, Lorente-Grandoso L, Ruiz P, Fraga G, López González M, Piñero-Fernández JA, Rodríguez-Peña L, Llano-Rivas I, Sáez R, Bujons-Tur A, Ariceta G, Guirado L, Torra R, Ars E.

Nephrol Dial Transplant. 2022 Mar 25;37(4):687-696. doi: 10.1093/ndt/gfab019.

PubMed [citation]
PMID:
33532864

Details of each submission

From Molecular Biology Laboratory, Fundació Puigvert - KidneyPanel_2020, SCV001425046.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024